{"Name":"Congenital stromal corneal dystrophy","DiseaseID__c":"GARD:0016943","id":16943,"encodedName":"congenital-stromal-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Congenital stromal corneal dystrophy","Xref_IDs__c":"702359002; C1864738; C566452; DOID:0060445; MEDGEN:400601; MONDO:0012401; NBK2690; OMIM:610048; ORPHA:101068","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012401","Disease_Description__c":"Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.","GARD_Name__c":"Congenital stromal corneal dystrophy","GARD_Synonym__c":"congenital hereditary stromal dystrophy; cscd; decorin associated congenital stromal corneal dystrophy; dystrophia corneae parenchymatosa congenita; witschel dystrophy","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Congenital stromal corneal dystrophy is an inherited eye disorder that primarily affects the clear layer that covers the front surface of the eye (cornea). Affected individuals have multiple corneal opacities, which are damaged areas that cause the cornea to appear cloudy or opaque rather than transparent. These corneal opacities form in the thickest layer of the cornea (stroma) and are typically present in both eyes (bilateral) from birth or soon thereafter. The corneas of affected individuals may also be thicker than normal and have an irregular surface. These corneal changes lead to a loss of visual acuity, which can impair a person’s ability to see clearly. Without treatment, visual acuity can worsen over time. Congenital stromal corneal dystrophy is often associated with additional eye abnormalities, including eyes that do not look in the same direction (strabismus) and 'lazy eye' (amblyopia). Less commonly, affected individuals may have involuntary eye movements (nystagmus) or increased sensitivity to light (photophobia).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:101068","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012401","ORPHANET_ID__c":"ORPHA:101068","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal estromal congénita","Spanish_Description_Source__c":"ORPHA:101068","Spanish_Description__c":"La distrofia corneal estromal congenital (CSCD) es una forma muy rara de distrofia corneal estromal (consulte este término) caracterizada por opacidades opacas en forma de escamas o de pluma en el estroma corneal, y una pérdida de visión entre grave y moderada.","Spanish_Disease_Name__c":"distrofia corneal estromal congénita","Spanish_GARD_Synonym__c":"cscd; distrofia de witschel; distrofia estromal hereditaria congénita","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Congenital stromal corneal dystrophy is an inherited eye disorder that primarily affects the clear layer that covers the front surface of the eye (cornea). Affected individuals have multiple corneal opacities, which are damaged areas that cause the cornea to appear cloudy or opaque rather than transparent. These corneal opacities form in the thickest layer of the cornea (stroma) and are typically present in both eyes (bilateral) from birth or soon thereafter. The corneas of affected individuals may also be thicker than normal and have an irregular surface. These corneal changes lead to a loss of visual acuity, which can impair a person’s ability to see clearly. Without treatment, visual acuity can worsen over time. Congenital stromal corneal dystrophy is often associated with additional eye abnormalities, including eyes that do not look in the same direction (strabismus) and 'lazy eye' (amblyopia). Less commonly, affected individuals may have involuntary eye movements (nystagmus) or increased sensitivity to light (photophobia).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"congenital hereditary stromal dystrophy; cscd; decorin associated congenital stromal corneal dystrophy; dystrophia corneae parenchymatosa congenita; witschel dystrophy","Name":"Congenital stromal corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:101068"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK2690","Source__c":"Gene Review","Xref__c":"NBK2690"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400601","Source__c":"C1864738","Xref__c":"MEDGEN:400601"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060445","Source__c":"MONDO:0012401","Xref__c":"DOID:0060445"},{"URL__c":"https://www.omim.org/entry/610048","Source__c":"C1864738; MONDO:0012401; ORPHA:101068","Xref__c":"OMIM:610048"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566452","Source__c":"MONDO:0012401","Xref__c":"C566452"},{"URL__c":"https://www.orpha.net/en/disease/detail/101068","Source__c":"C1864738; MONDO:0012401; ORPHA:101068","Xref__c":"ORPHA:101068"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702359002","Source__c":"C1864738; MONDO:0012401","Xref__c":"702359002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864738","Source__c":"C1864738","Xref__c":"C1864738"},{"URL__c":"https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy","Source__c":"GARD:0016943","Xref__c":"https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012401","Source__c":"GARD:0016943","Xref__c":"MONDO:0012401"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DCN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dcn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610048","Feature__r":{"HPO_Description__c":"A increased anteroposterior thickness of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011487","HPO_Name__c":"Increased corneal thickness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610048","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610048","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007709","HPO_Name__c":"Band-shaped corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610048","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610048","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610048","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["congenital hereditary stromal dystrophy"," cscd"," decorin associated congenital stromal corneal dystrophy"," dystrophia corneae parenchymatosa congenita"," witschel dystrophy"]}